DMD c.2827_2829delinsTGA ;(p.R943*)

Variant ID: X-32490401-GCG-TCA

NM_004006.2(DMD):c.2827_2829delinsTGA;(p.R943*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Kwong, Andrew A; Cogan, Jon J; Hou, Yingping Y; Antaya, Richard R; Hao, Michelle M; Kim, Gene G; Lincoln, Vadim V; Chen, Qiuyang Q; Woodley, David T DT; Chen, Mei M
Publication Date: 2020-05-06

Variant appearance in text: DMD: R943X
PubMed Link: 32222156
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page